{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T22:38:30Z","timestamp":1779143910034,"version":"3.51.4"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,3,26]],"date-time":"2016-03-26T00:00:00Z","timestamp":1458950400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Intellectual disability (ID) with cerebellar ataxia comprises a genetically heterogeneous group of neurodevelopmental disorders. We identified a homozygous frameshift mutation in <jats:italic>CWF19L1<\/jats:italic> (c.467delC; p.(P156Hfs*33)) by a combination of linkage analysis and Whole Exome Sequencing in a consanguineous Turkish family with a 9\u2010year\u2010old boy affected by early onset cerebellar ataxia and mild ID. Serial MRI showed mildly progressive cerebellar atrophy. Absent C19L1 protein expression in lymphoblastoid cell lines strongly suggested that c.467delC is a disease\u2010causing alteration. One further pregnancy of the mother had been terminated at 22 weeks of gestation because of a small cerebellum and agenesis of corpus callosum. The homozygous <jats:italic>CWF19L1<\/jats:italic> variant was also present in the fetus. Postmortem examination of the fetus in addition showed unilateral hexadactyly and vertebral malformations. These features have not been reported and may represent an expansion of the <jats:italic>CWF19L1<\/jats:italic>\u2010related phenotypic spectrum, but could also be due to another, possibly autosomal recessive disorder. The exact function of the evolutionarily highly conserved C19L1 protein is unknown. So far, homozygous or compound heterozygous mutations in <jats:italic>CWF19L1<\/jats:italic> have been identified in two Turkish siblings and a Dutch girl, respectively, affected by cerebellar ataxia and ID. A zebrafish model showed that <jats:italic>CWF19L1<\/jats:italic> loss\u2010of\u2010function mutations result in abnormal cerebellar morphology and movement disorders. Our report corroborates that loss\u2010of\u2010function mutations in <jats:italic>CWF19Ll<\/jats:italic> lead to early onset cerebellar ataxia and (progressive) cerebellar atrophy. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37632","type":"journal-article","created":{"date-parts":[[2016,3,26]],"date-time":"2016-03-26T12:48:00Z","timestamp":1458996480000},"page":"1502-1509","source":"Crossref","is-referenced-by-count":16,"title":["Exome sequencing reveals a novel <i>CWF19L1<\/i> mutation associated with intellectual disability and cerebellar atrophy"],"prefix":"10.1002","volume":"170","author":[{"given":"Christina","family":"Evers","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lilian","family":"Kaufmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg 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